Canonical Allele Identifier: CA368975357

Gene: CFTR

Linked Data

• gnomAD v4: 7-117642553-C-G
• MyVariant Identifiers: chr7:g.117282607C>G (hg19) ; chr7:g.117642553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642553C>G , CM000669.2:g.117642553C>G	GRCh38
NC_000007.13:g.117282607C>G , CM000669.1:g.117282607C>G	GRCh37
NC_000007.12:g.117069843C>G	NCBI36
NG_016465.4:g.181770C>G , LRG_663:g.181770C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*42C>G	ENSP00000497673.2:n.*42C>G
ENST00000647978.2:c.*3547C>G	ENSP00000497658.1:n.*3547C>G
ENST00000649781.2:c.3650C>G	ENSP00000497203.1:p.Thr1217Ser
ENST00000685018.2:c.3833C>G	ENSP00000510194.2:p.Thr1278Ser
ENST00000687278.2:c.*486C>G	ENSP00000509593.2:n.*486C>G
ENST00000699585.1:c.*42C>G	ENSP00000514456.1:n.*42C>G
ENST00000699598.1:c.3833C>G	ENSP00000514467.1:p.Thr1278Ser
ENST00000699599.1:c.3833C>G	ENSP00000514468.1:p.Thr1278Ser
ENST00000699600.1:c.*494C>G	ENSP00000514469.1:n.*494C>G
ENST00000699601.1:c.*2208C>G	ENSP00000514470.1:n.*2208C>G
ENST00000699602.1:c.3827C>G	ENSP00000514471.1:p.Thr1276Ser
ENST00000699604.1:c.*3657C>G	ENSP00000514472.1:n.*3657C>G
ENST00000699605.1:c.3407C>G	ENSP00000514473.1:p.Thr1136Ser
ENST00000685018.1:c.581C>G	ENSP00000510194.1:p.Thr194Ser
ENST00000687278.1:c.1620C>G	ENSP00000509593.1:n.1620C>G
ENST00000689011.1:c.415C>G
ENST00000003084.11:c.3833C>G MANE Select	ENSP00000003084.6:p.Thr1278Ser
ENST00000647720.1:c.1283C>G
ENST00000649781.1:c.3650C>G	ENSP00000497203.1:p.Thr1217Ser
ENST00000003084.10:c.3833C>G	ENSP00000003084.6:p.Thr1278Ser
ENST00000426809.5:c.3743C>G	ENSP00000389119.1:p.Thr1248Ser
NM_000492.3:c.3833C>G , LRG_663t1:c.3833C>G	NP_000483.3:p.Thr1278Ser
XM_011515751.1:c.3923C>G	XP_011514053.1:p.Thr1308Ser
XM_011515752.1:c.3923C>G	XP_011514054.1:p.Thr1308Ser
XM_011515753.1:c.3590C>G	XP_011514055.1:p.Thr1197Ser
XM_011515754.1:c.3590C>G	XP_011514056.1:p.Thr1197Ser
NM_000492.4:c.3833C>G MANE Select	NP_000483.3:p.Thr1278Ser